Canonical Allele Identifier: CA4961631

Gene: DMRT1

Linked Data

• dbSNP Id: rs762425212
• ExAC: 9:894103 G / C
• gnomAD v2: 9-894103-G-C
• gnomAD v3: 9-894103-G-C
• gnomAD v4: 9-894103-G-C
• MyVariant Identifiers: chr9:g.894103G>C (hg19) ; chr9:g.894103G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.894103G>C , CM000671.2:g.894103G>C	GRCh38
NC_000009.11:g.894103G>C , CM000671.1:g.894103G>C	GRCh37
NC_000009.10:g.884103G>C	NCBI36
NG_009221.1:g.57414G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382276.8:c.730G>C MANE Select	ENSP00000371711.3:p.Val244Leu
ENST00000382276.7:c.730G>C	ENSP00000371711.3:p.Val244Leu
ENST00000564322.1:n.879G>C
ENST00000569227.1:c.256G>C	ENSP00000454701.1:p.Val86Leu
NM_021951.2:c.730G>C	NP_068770.2:p.Val244Leu
XM_006716732.1:c.730G>C	XP_006716795.1:p.Val244Leu
XM_011517770.1:c.778G>C	XP_011516072.1:p.Val260Leu
XM_011517771.1:c.778G>C	XP_011516073.1:p.Val260Leu
XM_011517772.1:c.778G>C	XP_011516074.1:p.Val260Leu
XM_011517773.1:c.256G>C	XP_011516075.1:p.Val86Leu
NM_001363767.1:c.256G>C	NP_001350696.1:p.Val86Leu
XM_011517773.3:c.256G>C	XP_011516075.1:p.Val86Leu
XM_017014374.1:c.587-22660G>C	XP_016869863.1:n.587-22660G>C
XM_017014375.1:c.539-22660G>C	XP_016869864.1:n.539-22660G>C
XM_024447434.1:c.184G>C	XP_024303202.1:p.Val62Leu
NM_021951.3:c.730G>C MANE Select	NP_068770.2:p.Val244Leu